| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.9%) |
27467896 (5198002) |
Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases. Kayemba-Kay's S, Tripon C, Heron A, Hindmarsh P. J Clin Res Pediatr Endocrinol. 2016;8(4):432-438. |
| 丸い顔 短指症候群 | ||
| GNAS PTH | ||
| c|DEL|585|GACT | ||
| GTP結合タンパク質Gsαサブユニット てんかん発作 クロモグラニン ヒト 低身長症 体重増加 偽性副甲状腺機能低下症 変異 女 子供 子供（未就学） 幼児 感受性と特異性 甲状腺機能低下症 男 知的障害 短指症 肥満 赤血球 遡及研究 | ||
| 2 (35.3%) |
21274345 (3005667) |
Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5. Savas Erdeve , Berberoglu M, klar Z, Evliyaoglu O, Hiort O, Ocal G. J Clin Res Pediatr Endocrinol. 2010;2(2):85-8. |
| 短指症候群 | ||
| GNAS PTH | ||
| p|SUB|P|115|S | ||
| GTP結合タンパク質Gsαサブユニット エクソン クロモグラニン ヒト ビタミン ミスセンス変異 偽性副甲状腺機能低下症 女 子供 時間因子 男 経過観察 | ||
| 3 (4.0%) |
30729047 |
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman. Del Monte P, Cuttica CM, Marugo A, Foppiani L, Audenino D, Godowicz TT, Elli FM, Mantovani G, Di Maria E. Case Rep Endocrinol. 2019;2019:8456239. |
| 甲状腺機能低下症 | ||
| GNAS | ||
| c|DEL|568_571| | ||
| 3 (4.0%) |
30060753 (6065144) |
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia. Long XD, Xiong J, Mo ZH, Dong CS, Jin P. BMC Med Genet. 2018;19(1):132. |
| 甲状腺機能低下症 | ||
| GNAS PTH | ||
| c|SUB|A|715|G p|SUB|N|239|D | ||
| GTP結合タンパク質Gsαサブユニット エクソン クロモグラニン ヒト ヘテロ接合体 偽性副甲状腺機能低下症 変異 女 対立遺伝子 男 | ||
| 3 (4.0%) |
26160055 |
Clinical insights by the presence of bipolar disorder in pseudohypoparathyroidism type 1A. Kadilli I, Colicchio S, Guglielmo R, Vollono C, Della Marca G, Janiri L. Gen Hosp Psychiatry. 2015;37(5):497.e3-5. |
| 低カルシウム血症 | ||
| Comorbidity ヒト ビタミンD欠乏症 偽性副甲状腺機能低下症 双極性障害 女 成人 | ||
| 3 (4.0%) |
19364695 |
Pseudohypoparathyroidism type 1A and morbid obesity in infancy. Dekelbab BH, Aughton DJ, Levine MA. Endocr Pract. 2009;15(3):249-53. |
| 甲状腺機能低下症 | ||
| GNAS PTH | ||
| GTP結合タンパク質Gsαサブユニット クロモグラニン ヒト 偽性副甲状腺機能低下症 女 小児発達 幼児 |
合計: 68
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000852 | 偽性副甲状腺機能低下症 | Obligate (100%) |
| HP:0000311 | 丸い顔 | Very frequent (99-80%) |
| HP:0002901 | 低カルシウム血症 | Very frequent (99-80%) |
| HP:0002905 | 高リン血症 | Very frequent (99-80%) |
| HP:0003165 | 循環性副甲状腺ホルモン(PTH) 値上昇 | Very frequent (99-80%) |
| HP:0003456 | PTH 投与への尿中 cyclic AMP反応の低下 | Very frequent (99-80%) |
| HP:0004322 | 低身長 | Very frequent (99-80%) |
| HP:0008227 | 甲状腺ホルモンへの下垂体抵抗性 | Very frequent (99-80%) |
| HP:0000293 | 大きな頬 | Frequent (79-30%) |
| HP:0000470 | 短い頸部 | Frequent (79-30%) |
| HP:0000518 | 白内障 | Frequent (79-30%) |
| HP:0000639 | 眼振 | Frequent (79-30%) |
| HP:0000684 | 歯萌出遅延 | Frequent (79-30%) |
| HP:0000824 | 成長ホルモン欠乏症 | Frequent (79-30%) |
| HP:0001156 | 短指症候群 | Frequent (79-30%) |
| HP:0001249 | 知的障害 | Frequent (79-30%) |
| HP:0001513 | 肥満 | Frequent (79-30%) |
| HP:0002135 | 基底核石灰化 | Frequent (79-30%) |
| HP:0002591 | 過食症 | Frequent (79-30%) |
| HP:0002684 | 分厚い頭蓋冠 | Frequent (79-30%) |
| HP:0004704 | 短い第5中足骨 | Frequent (79-30%) |
| HP:0005280 | 落ちくぼんだ鼻梁 | Frequent (79-30%) |
| HP:0006297 | 歯エナメル質低形成 | Frequent (79-30%) |
| HP:0006960 | 脈絡膜叢石灰化 | Frequent (79-30%) |
| HP:0010027 | 幅広い第1中手骨 | Frequent (79-30%) |
| HP:0010044 | 短い第4中手骨 | Frequent (79-30%) |
| HP:0010047 | 短い第5中手骨 | Frequent (79-30%) |
| HP:0010049 | 短い中手骨 | Frequent (79-30%) |
| HP:0010743 | 短い中足骨 | Frequent (79-30%) |
| HP:0011001 | 骨ミネラル濃度の増加 | Frequent (79-30%) |
| HP:0011986 | 異所性骨化 | Frequent (79-30%) |
| HP:0012185 | 収縮性正中神経ニューロパチー | Frequent (79-30%) |
| HP:0000407 | 感音難聴 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000509 | 結膜炎 | Occasional (29-5%) |
| HP:0000585 | 帯状角膜症 | Occasional (29-5%) |
| HP:0000716 | うつ | Occasional (29-5%) |
| HP:0000737 | 被刺激性 | Occasional (29-5%) |
| HP:0000739 | 不安 | Occasional (29-5%) |
| HP:0000815 | 高ゴナドトロピン性性腺機能低下症 | Occasional (29-5%) |
| HP:0000822 | 高血圧 | Occasional (29-5%) |
| HP:0000876 | 希発月経 | Occasional (29-5%) |
| HP:0001265 | 反射低下 | Occasional (29-5%) |
| HP:0001266 | 舞踏病アテトーゼ | Occasional (29-5%) |
| HP:0001289 | 錯乱 | Occasional (29-5%) |
| HP:0001657 | 遷延性 QT 間隔 | Occasional (29-5%) |
| HP:0002094 | 呼吸困難 | Occasional (29-5%) |
| HP:0002176 | 脊髄圧迫 | Occasional (29-5%) |
| HP:0002514 | 大脳石灰化 | Occasional (29-5%) |
| HP:0003394 | 筋けいれん | Occasional (29-5%) |
| HP:0003401 | 感覚異常 | Occasional (29-5%) |
| HP:0003472 | 低カルシウム血症性テタニー | Occasional (29-5%) |
| HP:0003739 | ミオクローヌス性スパスム | Occasional (29-5%) |
| HP:0003761 | 石灰症 | Occasional (29-5%) |
| HP:0004305 | 不随意運動 | Occasional (29-5%) |
| HP:0004349 | 骨ミネラル濃度減少 | Occasional (29-5%) |
| HP:0004438 | 内前頭骨過骨症 | Occasional (29-5%) |
| HP:0009642 | 幅広い母指末節骨 | Occasional (29-5%) |
| HP:0010041 | 短い第3中手骨 | Occasional (29-5%) |
| HP:0011458 | 腹部症状 | Occasional (29-5%) |
| HP:0011869 | 血小板機能の異常 | Occasional (29-5%) |
| HP:0012049 | 喉頭ジストニア | Occasional (29-5%) |
| HP:0025027 | Osteoma cutis | Occasional (29-5%) |
| HP:0100749 | 胸痛 | Occasional (29-5%) |
| HP:0002199 | 低カルシウム血症性発作 | Very rare (4-1%) |
| HP:0003528 | カルシトニン上昇 | Very rare (4-1%) |
| HP:0008202 | プロラクチン欠乏症 | Very rare (4-1%) |
| HP:0030057 | Autoimmune antibody positivity | Excluded (0%) |
合計: 4
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000821 | 甲状腺機能低下症 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0001513 | 肥満 | 1 |
| HP:0002901 | 低カルシウム血症 | 1 |